List of variants in gene JPH2 reported as benign by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=)	rs1883790	0.86681
NM_020433.5(JPH2):c.379+36A>G	rs6031442	0.86287
NM_020433.5(JPH2):c.-393C>A	rs6031444	0.60799
NM_020433.5(JPH2):c.379+8538T>A	rs2064381	0.56659
NM_020433.5(JPH2):c.1289-89A>C	rs6073336	0.51040
NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	rs6093935	0.33656
NM_020433.5(JPH2):c.*14+173A>G	rs56170305	0.32548
NM_020433.5(JPH2):c.1728C>G (p.Pro576=)	rs74352869	0.21684
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	rs3810510	0.20153
NM_020433.5(JPH2):c.-401G>A	rs41279278	0.20074
NM_020433.5(JPH2):c.379+8605C>G	rs6130557	0.19558
NM_020433.5(JPH2):c.-450G>C	rs2235808	0.17099
NM_020433.5(JPH2):c.2010+40C>G	rs56061946	0.11470
NM_020433.5(JPH2):c.*258G>A	rs13043824	0.09303
NM_020433.5(JPH2):c.2010+146G>C	rs6103631	0.08832
NM_020433.5(JPH2):c.379+77C>T	rs75804573	0.08303
NM_020433.5(JPH2):c.1179C>T (p.His393=)	rs7268512	0.08199
NM_020433.5(JPH2):c.1289-7C>T	rs116986535	0.02048
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	rs140740776	0.01021
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)	rs369883442	0.00196

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